Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
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| Title: | Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. |
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| Authors: | Pangilinan F; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Watkins D; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Bernard D; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Chen Y; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China., Dong N; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; MOH Key Laboratory of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China., Wu Q; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China., Ozel-Abaan H; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Kaur M; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Morrissey M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Browne ML; Birth Defects Registry, New York State Department of Health, Albany, New York and University at Albany School of Public Health, Rensselaer, New York, USA., Mills JL; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Van Ryzin C; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Shchelochkov O; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Sloan J; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Venditti CP; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Sarafoglou K; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Rosenblatt DS; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Brody LC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1124-1141. Date of Electronic Publication: 2022 Feb 02. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62627 |
